Aliases for ASH1L Gene
- ASH1 Like Histone Lysine Methyltransferase 2 3 5
- Absent Small And Homeotic Disks Protein 1 Homolog 3 4
- Histone-Lysine N-Methyltransferase ASH1L 3 4
- Lysine N-Methyltransferase 2H 3 4
- ASH1-Like Protein 3 4
- KMT2H 3 4
- Ash1 (Absent, Small, Or Homeotic)-Like (Drosophila) 2
- Probable Histone-Lysine N-Methyltransferase ASH1L 3
External Ids for ASH1L Gene
Previous GeneCards Identifiers for ASH1L Gene
This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]
GeneCards Summary for ASH1L Gene
ASH1L (ASH1 Like Histone Lysine Methyltransferase) is a Protein Coding gene. Diseases associated with ASH1L include Mental Retardation, Autosomal Dominant 52 and Pulpitis. Among its related pathways are PKMTs methylate histone lysines and Chromatin organization. Gene Ontology (GO) annotations related to this gene include chromatin binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is KMT2A.
UniProtKB/Swiss-Prot Summary for ASH1L Gene
Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me) (PubMed:21239497). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity).